Linked Data
dbSNP Id:
rs1446706133
gnomAD v2:
6-152534828-G-T
gnomAD v3:
6-152213693-G-T
gnomAD v4:
6-152213693-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152213693G>T , CM000668.2:g.152213693G>T | GRCh38 |
| NC_000006.11:g.152534828G>T , CM000668.1:g.152534828G>T | GRCh37 |
| NC_000006.10:g.152576521G>T | NCBI36 |
| NG_012855.1:g.428707C>A | |
| NG_012855.2:g.428707C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367255.10:c.22413C>A MANE Select | ENSP00000356224.5:p.Phe7471Leu | |
| ENST00000423061.6:c.22200C>A | ENSP00000396024.1:p.Phe7400Leu | |
| ENST00000341594.9:c.21198C>A | ENSP00000341887.6:p.Phe7066Leu | |
| ENST00000367251.7:c.1179C>A | ENSP00000356220.3:p.Phe393Leu | |
| ENST00000367255.9:c.22413C>A | ENSP00000356224.5:p.Phe7471Leu | |
| ENST00000367256.9:n.6105C>A | ||
| ENST00000367257.8:c.351C>A | ENSP00000356226.4:p.Phe117Leu | |
| ENST00000409694.6:n.5997C>A | ||
| ENST00000423061.5:c.22200C>A | ENSP00000396024.1:p.Phe7400Leu | |
| NM_033071.3:c.22200C>A | NP_149062.1:p.Phe7400Leu | |
| NM_182961.3:c.22413C>A | NP_892006.3:p.Phe7471Leu | |
| XM_006715407.1:c.22449C>A | XP_006715470.1:p.Phe7483Leu | |
| XM_006715408.1:c.22437C>A | XP_006715471.1:p.Phe7479Leu | |
| XM_006715409.1:c.22428C>A | XP_006715472.1:p.Phe7476Leu | |
| XM_006715410.1:c.22449C>A | XP_006715473.1:p.Phe7483Leu | |
| XM_006715411.1:c.22398C>A | XP_006715474.1:p.Phe7466Leu | |
| XM_006715412.1:c.22434C>A | XP_006715475.1:p.Phe7478Leu | |
| XM_006715413.1:c.22449C>A | XP_006715476.1:p.Phe7483Leu | |
| XM_006715414.1:c.22377C>A | XP_006715477.1:p.Phe7459Leu | |
| XM_006715415.1:c.22449C>A | XP_006715478.1:p.Phe7483Leu | |
| XM_006715416.1:c.22434C>A | XP_006715479.1:p.Phe7478Leu | |
| XM_006715417.1:c.22308C>A | XP_006715480.1:p.Phe7436Leu | |
| XM_006715420.1:c.22296C>A | XP_006715483.1:p.Phe7432Leu | |
| XM_006715421.1:c.22293C>A | XP_006715484.1:p.Phe7431Leu | |
| XM_006715422.1:c.22290C>A | XP_006715485.1:p.Phe7430Leu | |
| XM_006715423.1:c.22449C>A | XP_006715486.1:p.Phe7483Leu | |
| XM_006715424.1:c.22449C>A | XP_006715487.1:p.Phe7483Leu | |
| XM_006715425.1:c.22449C>A | XP_006715488.1:p.Phe7483Leu | |
| XM_011535641.1:c.22446C>A | XP_011533943.1:p.Phe7482Leu | |
| XM_011535642.1:c.22434C>A | XP_011533944.1:p.Phe7478Leu | |
| XM_011535643.1:c.22284C>A | XP_011533945.1:p.Phe7428Leu | |
| XM_011535644.1:c.20724C>A | XP_011533946.1:p.Phe6908Leu | |
| XM_011535645.1:c.20217C>A | XP_011533947.1:p.Phe6739Leu | |
| XM_011535647.1:c.15684C>A | XP_011533949.1:p.Phe5228Leu | |
| XM_006715408.2:c.22437C>A | XP_006715471.1:p.Phe7479Leu | |
| XM_006715410.2:c.22449C>A | XP_006715473.1:p.Phe7483Leu | |
| XM_006715412.2:c.22434C>A | XP_006715475.1:p.Phe7478Leu | |
| XM_006715413.2:c.22449C>A | XP_006715476.1:p.Phe7483Leu | |
| XM_006715415.2:c.22449C>A | XP_006715478.1:p.Phe7483Leu | |
| XM_006715416.2:c.22434C>A | XP_006715479.1:p.Phe7478Leu | |
| XM_006715417.2:c.22308C>A | XP_006715480.1:p.Phe7436Leu | |
| XM_006715420.2:c.22296C>A | XP_006715483.1:p.Phe7432Leu | |
| XM_006715421.2:c.22293C>A | XP_006715484.1:p.Phe7431Leu | |
| XM_006715423.2:c.22449C>A | XP_006715486.1:p.Phe7483Leu | |
| XM_006715424.2:c.22449C>A | XP_006715487.1:p.Phe7483Leu | |
| XM_006715425.2:c.22449C>A | XP_006715488.1:p.Phe7483Leu | |
| XM_011535641.2:c.22446C>A | XP_011533943.1:p.Phe7482Leu | |
| XM_011535642.2:c.22434C>A | XP_011533944.1:p.Phe7478Leu | |
| XM_011535645.2:c.20217C>A | XP_011533947.1:p.Phe6739Leu | |
| XM_017010608.1:c.22449C>A | XP_016866097.1:p.Phe7483Leu | |
| XM_017010609.1:c.22449C>A | XP_016866098.1:p.Phe7483Leu | |
| XM_017010610.1:c.22428C>A | XP_016866099.1:p.Phe7476Leu | |
| XM_017010611.2:c.22422C>A | XP_016866100.1:p.Phe7474Leu | |
| XM_017010612.1:c.22371C>A | XP_016866101.1:p.Phe7457Leu | |
| XM_017010613.1:c.22446C>A | XP_016866102.1:p.Phe7482Leu | |
| XM_017010614.1:c.22293C>A | XP_016866103.1:p.Phe7431Leu | |
| XM_017010615.1:c.22293C>A | XP_016866104.1:p.Phe7431Leu | |
| XM_017010616.1:c.22449C>A | XP_016866105.1:p.Phe7483Leu | |
| XM_017010617.1:c.22446C>A | XP_016866106.1:p.Phe7482Leu | |
| XM_017010618.1:c.22434C>A | XP_016866107.1:p.Phe7478Leu | |
| XM_017010619.1:c.20724C>A | XP_016866108.1:p.Phe6908Leu | |
| NM_182961.4:c.22413C>A MANE Select | NP_892006.3:p.Phe7471Leu | |
| NM_033071.5:c.22200C>A | NP_149062.2:p.Phe7400Leu |